LetsGetChecked’s Post

I am delighted to announce the publication of our paper, "Evidence from 2100 Index Cases Supports Genome Sequencing as a First-Tier Genetic Test," in Genetics in Medicine. Conducted during my tenure at Revvity Omics, this study epitomizes our team's collaborative spirit and represents a significant advancement in the field of genetic diagnostics, showcasing our collective expertise and commitment.   The study emphasizes the pivotal role of Genome Sequencing (GS) as a primary diagnostic tool in genetic medicine. Providing substantial evidence, this study supports GS as the preferred diagnostic tool, marking a major step forward in improving patient diagnostics. This advancement could greatly streamline and simplify the often complex diagnostic process for patients.   I am honored to have been part of this groundbreaking study, which champions the use of GS as a primary assay in genetic diagnostics, underscoring our team's commitment to improving patient care through innovative and evidence-based genetic research. #GenomeSequencing #ClinicalGenetics #PatientCareAdvancement #GeneticsInMedicine   https://lnkd.in/gT4zmr2V

Back from ACMG.... so many talks on the value of Nanopore long read sequencing and posters too P209: Development of a single comprehensive genomic test based on long-read sequencing technology for the diagnosis of rare genetic disorders https://lnkd.in/e2xbrWjk

Which diagnostic exploratory test should you order? In this "Hot Topic," explore a side-by-side comparison of diagnostic exploratory tests including whole exome sequencing and whole genome sequencing. https://bit.ly/3vwJJLO

Quest Diagnostics and Broad Institute of MIT and Harvard Clinical Labs are teaming up to evaluate Whole Genome Sequencing (#WGS) as a first-line genetic test for developmental delay. This exciting collaboration highlights the clinical value of WGS in diagnosing developmental delays faster and more specifically. Stay tuned for updates on this promising development! #genetictesting #developmentaldelay #precisionmedicine

What if we could zoom in on the most informative parts of the genome to speed up disease research and diagnosis? Whole exome sequencing (WES) does exactly that. It allows researchers and clinicians to identify disease-causing mutations efficiently, by focusing on just the protein-coding regions of genes. Read this excellent article written by my colleague Éva Mészáros to find out more: This introduction to WES explains what it is and how it works, as well as outlining its applications and offering a comparison with whole genome sequencing (WGS). #AccelerateScientificDiscovery #TheAmbitionToMakePipettingMoreProductive #IntegraBiosciences #NGS

Proactive genetic screening informs risk for genetic conditions in asymptomatic individuals. Check out our Educational Webinar April 10 at 5 PM CEST: https://lnkd.in/dX4JBHWW Proactive screening tests typically contain a selection of genes that are associatedwith autosomal dominant, autosomal recessive, and X-linked conditions. This is inclusive of genes linked to genetic conditions identified as medicallyactionable by the American College of Medical Genetics and Genomics (ACMG) such as cancer,cardiovascular, and metabolic conditions where early identification may have a treatment that can improve outcomes. In this webinar, Lotta Koskinen, PhD and Torry Howall, MS, CGS will discuss how genetic testing can give healthy individuals, without a family history, information about their chance of having a genetic condition. Objectives for the webinar are:  1. Introduce proactive genetic screening and points to consider when choosing a test and a performing laboratory 2. Outline topics for pre- and post-test counseling related to genetic screening 3. Review experiences with proactive screening through case examples  

A new paradigm is proposed that consists of simultaneous performance of whole genome sequencing and optical genome mapping to detect all types of genomic variation and performance of transcriptome analysis to establish the functional significance of the findings. In this paradigm Bionano Optical Genome Mapping (#OGM) would replace karyotyping, microarray analysis, repeat expansion sizing, and #FSHD testing while whole genome sequencing (#WGS) would replace #microarray, targeted panel, exome, mitochondrial genome sequencing, repeat expansion testing, mitochondrial depletion testing, and uniparental disomy testing.

Whole genome sequencing is one of the most comprehensive and cost-effective genetic testing methods for patients with clinical features that do not fit within one disorder. Learn how our whole genome sequencing can advance diagnosis for patients. https://bit.ly/3PH073i

Changing the Clinical Genetic Testing Paradigm to Increase Sensitivity and Specificity. Showing the importance of #ogm and #wgs for study of all type of genomic variations.

Delighted to see our publication online - As the number of genes associated with various germline disorders continues to grow, it is becoming more difficult for #clinical #laboratories to maintain separate assays for interrogating disease-focused #genepanels. One solution to this challenge is termed #slice testing, where a standard capture backbone is used to analyze data specific to a set of genes. Here, we provide #expert consensus #recommendations and explore specific considerations for slices, including gene selection, #analytical performance, #coverage, #quality, and #interpretation. Our goal is to provide comprehensive guidance for clinical laboratories interested in designing and using slice tests as a diagnostic. Thanks for the collaboration by members of the Association for Molecular Pathology (AMP), College of American Pathologists (CAP), and National Society of Genetic Counselors